The Epidemiological Investigation And Inheritance Study Of Mitochondrial DNA 12SrRNA A1555G Mutation In Yunnan Province, China

Objective:To screen mitochondrial DNA 12SrRNA A1555G mutation, explore prevalence, inheritance, and drug intervention among sensorineural hearing loss group of patients in Yunnan, China based on the previous studies that have shown sensorineural deafness and mitochondrial DNA mutations is closely related.Methods:A total of 452 disseminated cases with sensorineural hearing loss were enrolled in this study. Briefly, it includes DNA extraction from peripheral blood, polymerase chain reaction(PCR) amplification, restriction enzyme digestion to detect the A1555G mutation positive individuals. For the positive individuals, a face to face interview or telephone questionnaire survey was preformed to detect the incidence of maternal family deaf and draw a detailed matriarchal family tree. Following that was the screening for family volunteer use DNA extracting, PCR amplification and sequencing for confirmation.Results:A total of 38 positive individuals with A1555G mutation were screened out of 452 cases with sensorineural hearing loss (8.4%). Altogether 10 familes out of 20 families with detailed family tress participated in the research:For those 88 people enrolled in the study,36 people are with normal hearing, but the rest 52 are with sensorineural deafness. However,84 out of those 88 cases had A1555G point mutation. And the sequencing test indicated 10 are heterogeneous while 70 are homogenous mutation. Except 12 patients had no aminoglycoside antibiotic medication history, all the rest cases have a history of aminoglycoside antibiotc medication.Conclusion:The proportion of patients with drug-induced deafness in high within Yunnan Province. And we also found a high mutation rate in mitochondrial DNA A1555G It is worthy to do DNA 12SrRNA A1555G mutation screening for druy intervention and prevention.